Variant NM_000492.4:c.1055G>A


Variant details:
Name NM_000492.4:c.1055G>A
Protein name NP_000483.3:p.(Arg352Gln)
Genomic name (hg19) chr7:g.117180339G>A    UCSC    gnomAD
#Exon/intron exon 8
Legacy Name R352Q
Class disease-causing
Subclass CF-causing
WT sequence ATTGTTCTGCGCATGGCGGTCACTC G GCAATTTCCCTGGGCTGTACAAACA
Mutant sequence ATTGTTCTGCGCATGGCGGTCACTC A GCAATTTCCCTGGGCTGTACAAACA


External sources:
dbSNP
rs121908753


Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Cui et al, 2008 18421494 ✓
Van Goor et al, 2014 23891399 ✓ ✓ ✓
Sosnay et al, 2013 23974870 ✓ ✓


« ✓ » indicates the type of analysis performed and not the results


Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVA yesnono yes
TEZ-IVA yes yesno yes
ELX-TEZ-IVA yesnoyesno


clinical and functional data are provided by Vertex


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.1713 0.26 1
VUS1 VUS1 VUS1 VUS5

Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing




No patient found in CFTR-NGS catalogue


6 patients carrying this variant are reported in CFTR-France:

TOTAL NUMBER OF PATIENTS 6
CF 5
CFTR-RD1
  • CBAVD  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 350heterozygoteCF-causing- Undef
CF 1526heterozygoteCF-causing - Trans
CF 2355heterozygoteCF-causing- Undef
CF 3082heterozygoteCF-causing - Trans
CF 3875heterozygoteCF-causing - Trans
CBAVD 5093heterozygoteCFTR-RD-causing- Undef


Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



            CFTR variants are clustered into five groups:
  • CF-causing: when in trans with another CF-causing mutation, will result in CF.
  • CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (CFTR-RD) such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011.
  • Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
  • Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
  • VUS (Variant of unknown clinical significance): unclassified because of insufficient data.